DEAFNESS, AUTOSOMAL RECESSIVE 86
General Information (adopted from Orphanet):
Synonyms, Signs: |
DFNB86 |
Number of Symptoms | 3 |
OrphanetNr: | |
OMIM Id: |
614617
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
|
(OMIM) | Deafness, profound, affects all frequencies | 1 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Clinical Description OMIM |
Ali et al. (2012) reported a consanguineous Pakistani family in which 11 individuals had prelingual onset of profound hearing loss affecting all frequencies. There were no additional features or history of vestibular difficulties, but sophisticated testing of vestibular ... |